中文版 | English
题名

Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals

作者
通讯作者He, Jiankui; He, Jiankui
发表日期
2017-08-08
DOI
发表期刊
ISSN
2045-2322
卷号7
摘要

Cell-free DNA (cfDNA) in plasma has emerged as a potential important biomarker in clinical diagnostics, particularly in cancer. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. This study examined the background somatic mutations in white blood cells (WBC) and cfDNA in healthy controls based on sequencing data from 821 non-cancer individuals and several cancer samples with the aim of understanding the patterns of mutations detected in cfDNA. We determined the mutation allele frequencies in both WBC and cfDNA using a panel of 50 cancer-associated genes that covers 20 K-nucleotide region and ultra-deep sequencing with average depth > 40000-fold. Our results showed that most of the mutations in cfDNA were highly correlated to WBC. We also observed that the NPM1 gene was the most frequently mutated gene in both WBC and cfDNA. Our study highlighted the importance of sequencing both cfDNA and WBC to improve the sensitivity and accuracy for calling cancer-related mutations from circulating tumour DNA, and shedded light on developing a strategy for early cancer diagnosis by cfDNA sequencing.

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语种
英语
学校署名
通讯
资助项目
National Natural Science Foundation of China[31401145]
WOS研究方向
Science & Technology - Other Topics
WOS类目
Multidisciplinary Sciences
WOS记录号
WOS:000407180200027
出版者
来源库
Web of Science
引用统计
被引频次[WOS]:29
成果类型期刊论文
条目标识符http://sustech.caswiz.com/handle/2SGJ60CL/28723
专题生命科学学院_生物系
作者单位
1.Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Dept Gastrointestinal Surg, Shenzhen 518020, Peoples R China
2.South Univ Sci & Technol China, Dept Biol, Shenzhen 518055, Peoples R China
3.Shenzhen Second Peoples Hosp, Dept Oncol, Shenzhen, Peoples R China
4.Direct Genom Co Ltd, Shenzhen 518055, Guangdong, Peoples R China
5.Shenzhen GeneHlth Bio Tech Co Ltd, Shenzhen 518053, Guangdong, Peoples R China
6.Anhui Med Univ, Anhui Prov Canc Hosp, West Branch Anhui Prov Hosp, Dept Clin Lab, Hefei, Anhui, Peoples R China
7.Peking Univ, Shenzhen Hosp, Thorac Dept, Shenzhen, Peoples R China
8.Shenzhen Second Peoples Hosp, Surg Dept Urol, Shenzhen, Peoples R China
9.Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Dept Gastrointestinal Surg, Shenzhen 518020, Peoples R China
10.South Univ Sci & Technol China, Dept Biol, Shenzhen 518055, Peoples R China
11.Shenzhen Second Peoples Hosp, Dept Oncol, Shenzhen, Peoples R China
12.Direct Genom Co Ltd, Shenzhen 518055, Guangdong, Peoples R China
13.Shenzhen GeneHlth Bio Tech Co Ltd, Shenzhen 518053, Guangdong, Peoples R China
14.Anhui Med Univ, Anhui Prov Canc Hosp, West Branch Anhui Prov Hosp, Dept Clin Lab, Hefei, Anhui, Peoples R China
15.Peking Univ, Shenzhen Hosp, Thorac Dept, Shenzhen, Peoples R China
16.Shenzhen Second Peoples Hosp, Surg Dept Urol, Shenzhen, Peoples R China
通讯作者单位生物系
推荐引用方式
GB/T 7714
Xia, Ligang,Li, Zhoufang,Zhou, Bo,et al. Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals[J]. Scientific Reports,2017,7.
APA
Xia, Ligang.,Li, Zhoufang.,Zhou, Bo.,Tian, Geng.,Zeng, Lidong.,...&He, Jiankui.(2017).Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals.Scientific Reports,7.
MLA
Xia, Ligang,et al."Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals".Scientific Reports 7(2017).
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